Product Details

SNP ID

rs200770175

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:153149928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGATACTTCTGCTGGCAGGGTGG[G/T]TATGGTTGCACAGGAGGGCATTTAT

Phenotype

MIM: 182269

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SPRR2C PubMed Links

Gene Details

Gene

SPRR2C

Gene Name

small proline rich protein 2C (pseudogene)

There are no transcripts associated with this gene.

Gene

SPRR2G

Gene Name

small proline rich protein 2G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014291.3	227	Nonsense Mutation	TAA,TAC	*61Y	NP_001014313.1
XM_017002177.1	227	Nonsense Mutation	TAA,TAC	*61Y	XP_016857666.1
XM_017002178.1	227	Nonsense Mutation	TAA,TAC	*61Y	XP_016857667.1

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